eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acth deficiency | ||||
| Disease ID | 1319 |
|---|---|
| Disease | acth deficiency |
| Definition | A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. [DDD:spark] |
| Synonym | acth deficiency (disorder) adrenocorticotropic hormone (acth) deficiency adrenocorticotropic hormone (acth) deficiency (disorder) adrenocorticotropic hormone deficiency adrenocorticotropic hormone deficiency (disorder) corticotropin deficiency secondary hypoadrenalism |
| OMIM | |
| UMLS | C0342388 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C1565489 | renal insufficiency | 3 C0001623 | adrenal insufficiency | 3 C0020598 | hypoglycemia | 2 C0020617 | hypoglycemic coma | 1 C0796004 | kabuki syndrome | 1 C0017668 | focal segmental glomerulosclerosis | 1 C0020635 | hypopituitarism | 1 C0028754 | obesity | 1 C0001623 | adrenal failure | 1 C0878544 | cardiomyopathy | 1 C0020676 | hypothyroidism | 1 C0028756 | severe obesity | 1 C0032533 | polymyalgia rheumatica | 1 C0178664 | glomerulosclerosis | 1 C0013338 | growth hormone deficiency | 1 C0035078 | renal failure | 1 C0677607 | hashimoto's disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | (Waiting for update.) |
| Disease ID | 1319 |
|---|---|
| Disease | acth deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:22) HP:0000083 | Renal insufficiency | 4 HP:0000846 | Hypoadrenalism | 3 HP:0001943 | Hypoglycemia | 2 HP:0001250 | Seizures | 1 HP:0001638 | Cardiomyopathy | 1 HP:0040075 | Hypopituitarism | 1 HP:0012531 | Pain | 1 HP:0001325 | Coma caused by low blood sugar | 1 HP:0000746 | Delusions | 1 HP:0006846 | Acute encephalopathy | 1 HP:0011665 | Takotsubo cardiomyopathy | 1 HP:0001259 | Coma | 1 HP:0000821 | Underactive thyroid | 1 HP:0000824 | Growth hormone deficiency | 1 HP:0000097 | focal glomerulosclerosis | 1 HP:0002960 | Autoimmune condition | 1 HP:0000832 | Primary hypothyroidism | 1 HP:0001513 | Obesity | 1 HP:0005110 | Atrial fibrillation | 1 HP:0002664 | Neoplasia | 1 HP:0001298 | Encephalopathy | 1 HP:0000096 | Glomerulosclerosis | 1 |
| Disease ID | 1319 |
|---|---|
| Disease | acth deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs730880274 | NA | 9095 | TBX19 | umls:C0342388 | CLINVAR | NA | 0.120542884 | NA | TBX19 | 1 | 168305062 | A | - |
| rs74315376 | NA | 9095 | TBX19 | umls:C0342388 | CLINVAR | NA | 0.120542884 | NA | TBX19 | 1 | 168305136 | C | T |
| rs74315377 | NA | 9095 | TBX19 | umls:C0342388 | CLINVAR | NA | 0.120542884 | NA | TBX19 | 1 | 168291339 | C | T |
| rs74315378 | NA | 9095 | TBX19 | umls:C0342388 | CLINVAR | NA | 0.120542884 | NA | TBX19 | 1 | 168291213 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1319 |
|---|---|
| Disease | acth deficiency |
| Case | (Waiting for update.) |